15037 results for "cancer studies using rna-seq"

in 13.49 milliseconds.

• Illumina Human Exome (ExomeChip) genotype data from the Pomak villages in Greece (HELIC Pomak Isolate). 1040 samples all >=16 years old.

  Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies. Here we have genotyped individuals from a Greek population isolate on the Illumina HumanExome Beadchip. The HELIC (Hellenic Isolated Cohorts) Pomak collection focuses on the Pomak villages in Greece. Recruitment of this population-based sample was primarily carried out at the village medical centres. www.helic.org

  Study EGAS00001000658

• Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP

  We conducted GWAS of sporadic CJD, variant CJD, iatrogenic CJD, inherited prion disease, kuru and resistance to kuru despite attendance at mortuary feasts. After quality control we analysed 2000 samples and 6015 control individuals (provided by the Wellcome Trust Case Control Consortium and KORA-gen), for 491032-511862 SNPs in the European study. Association studies were done in each geographical and aetiological group followed by several combined analyses.

  Study EGAS00000000097

• Post-liver transplant recurrent human hepatocellular carcinoma study (RHCCS)

  The whole exome sequencing showed that HERC5 deletion and under-expression associates with shorter: time to tumor recurrence, progression-free, and overall survival in hepatocellular carcinoma (HCC) in two independent studies (p1=0.004, HR1=1.80; p2=0.018, HR2=3.31) totaling 286 HCC patients. Matched primary and recurrent tumors indicated a clonal selection advantage in somatic single nucleotide and copy number variants (CNVs) in recurrent compared to primary tumors of Chinese HCC patients with Wnt signaling most activated.

  Study phs000782

• The Immunogenetics of Measles Immunity - Measles (MMR) vaccination (NIAID/NIH)

  To examine the role of gene polymorphisms (including functional studies of SNPs) on variations in vaccine-induced immune responses, in approximately 3,000 healthy school-age children, adolescents and young adults/adults, who were vaccinated with measles-containing vaccine (MMR). To achieve greatest power to detect SNPs associated with measles-specific immune response phenotypes, we pooled our data across three genotyping platforms and three cohorts (US cohort, San Diego cohort and Rochester cohort).

  Study phs001630

• Genetics and Pathophysiology of Autoinflammatory Disorders

  In this study, patients with suspected disorders of inflammation and innate immune system dysregulation will undergo whole exome sequencing. This will involve both family studies (often trios or multiplex families including affected and unaffected individuals) and sporadic cases. The overall objective is to discover rare/novel high-penetrance mutations in genes that have not yet been implicated as the cause of monogenic autoinflammatory diseases. The aim also includes discovery of variants associated with inflammatory disease susceptibility.

  Study phs001860

• Susceptibility loci for tanning ability in Japanese population identified by genome-wide association study

  We performed genome-wide association studies of Japanese Skin Type for Japanese individuals from a cohort study by the Tohoku Medical Megabank Project in order to identify variants related to tanning ability and skin pigmentation. We used imputed genotype data of 9,187 Japanese individuals, of which 4,475 individuals are from Miyagi prefecture and 4,712 individuals are from Iwate prefecture. Skin Type information was obtained from the questionnaire for cohort participants.

  Study JGAS000160

• APCDR AGV Project: Whole genome sequencing of 3 African populations (curated data)

  The African Genome Variation Project (AGVP) provides a resource to help design, implement and interpret genomic studies in sub-Saharan Africa (SSA) and worldwide. The AGVP represents dense genotypes from 1,481 and whole genome sequences (WGS) from 320 individuals across SSA. As part of the AGVP we sequenced 3 African populations; Baganda from Uganda (4x), Zulu from South Africa (4x), Gumuz, Wolayta, Oromo, Somali and Amhara from Ethiopia (8x).

  Study EGAS00001000960

• Distinct genomic profile and specific targeted drug responses in adult cerebellar glioblastoma

  Only a few studies have reported the molecular characteristics of adult cerebellar glioblastoma (C-GBM), a subtype comprising 1% of glioblastoma cases located within the infratentorial brain region due to the rarity. By identifying genomic profiles from 19 adult C-GBM samples, we revealed the genetic intertumoral heterogeneity in C-GBM as well as distinct genomic characteristics from those of supratentorial glioblastomas (S-GBMs), emphasizing the need of individualized therapies for C-GBM patients.

  Study EGAS00001002517

• International consensus definition of DNA methylation subgroups in juvenile myelomonocytic leukemia

  Known clinical and genetic markers have limitations in predicting disease course and outcome in juvenile myelomonocytic leukemia (JMML). DNA methylation (DNAme) patterns in JMML have correlated with outcome across multiple studies, suggesting it as a biomarker to improve patient stratification. However, standardized approaches to classify JMML based on DNAme patterns are lacking. We therefore sought to define an international consensus for DNAme subgroups in JMML and develop classification methods for clinical implementation.

  Study EGAS00001004682

• Multiomic Sequencing of Paired Primary and Metastatic Small Bowel Carcinoids

  Small bowel carcinoids are insidious tumors that often have metastatic spread at the time of diagnosis. Limited studies on the mutational landscape of carcinoids indicate that the tumors have a relatively low mutational burden. Loss of chromosome 18q and loss of CDKN1B have been reported in a minority of tumors. The development of targeted therapies will depend upon the identification of mutations that drive the pathogenesis and metastasis of carcinoid tumors.

  Study EGAS00001006988